Accuracy of Down's syndrome risks produced in a prenatal screening program

Abstract

Down's syndrome screening in the second trimester using a variety of combinations of maternal serum markers has become an established part of antenatal care over the past decade. The methodology of calculating Down's syndrome risk using statistical models based on the Gaussian distribution functions of the various markers used is often considered daunting, and many screening centres rely on specific screening computer software to undertake the relevant calculations. Such software is often a closed system which does not allow the user to check or change any of the parameters within the model. It is clear from a recent UK NEQAS survey of Down's syndrome screening laboratories (Spencer, Ellis, Seth, 1997, unpublished data) that many centres are unsure what method of calculating risk and what population parameters are used in their software, and how appropriate these are for the population being screened. This confusion has led to uncertainty over the reliability of the risk estimates produced in Down's syndrome screening programs.